DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.

ABSTRACT:

Objective

To correlate time to loss of ambulation (LoA) and different truncating DMD gene mutations in a large, prospective natural history study of Duchenne muscular dystrophy (DMD), with particular attention to mutations amenable to emerging molecular treatments.

Methods

We analyzed data from the Cooperative International Neuromuscular Research Group Duchenne Natural History Study for participants with DMD single- or multi-exon deletions or duplications with defined exon boundaries (n = 186), or small mutations identified by sequencing (n = 26, including 16 nonsense point mutations). We performed a time-to-event analysis of LoA, a strong indicator of overall disease severity, adjusting for glucocorticoid treatment and genetic modifiers.

Results

Participants with del

SUBMITTER: Bello L 

PROVIDER: S-EPMC4977110 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature